Genetic insights into biological mechanisms governing human ovarian ageing

Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank

(2021) Joseph D. Szustakowski et al.   NATURE GENETICS

Using human genetics to understand the disease impacts of testosterone in men and women

(2020) Katherine S Ruth et al.   NATURE MEDICINE

Oocyte Elimination Through DNA Damage Signaling from CHK1/CHK2 to p53 and p63

(2020) Vera D. Rinaldi et al.   GENETICS

Homozygous hypomorphic BRCA2 variant in primary ovarian insufficiency without cancer or Fanconi anaemia trait

(2020) Sandrine Caburet et al.   JOURNAL OF MEDICAL GENETICS

KDM4A regulates the maternal-to-zygotic transition by protecting broad H3K4me3 domains from H3K9me3 invasion in oocytes

(2020) Aditya Sankar et al.   NATURE CELL BIOLOGY

Scalable generalized linear mixed model for region-based association tests in large biobanks and cohorts

(2020) Wei Zhou et al.   NATURE GENETICS

Endogenous DNA 3′ Blocks Are Vulnerabilities for BRCA1 and BRCA2 Deficiency and Are Reversed by the APE2 Nuclease

(2020) Alejandro Álvarez-Quilón et al.   MOLECULAR CELL

Chromosomal alterations among age-related haematopoietic clones in Japan

(2020) Chikashi Terao et al.   NATURE

A heterozygous hypomorphic mutation of Fanca causes impaired follicle development and subfertility in female mice

(2020) Yuncheng Pan et al.   MOLECULAR GENETICS AND GENOMICS

Association of menopausal characteristics and risk of coronary heart disease: a pan-European case–cohort analysis

(2019) Veerle Dam et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Variations in reproductive events across life: a pooled analysis of data from 505 147 women across 10 countries

(2019)   HUMAN REPRODUCTION

Freezing of ovarian tissue and clinical opportunities

(2019) Claus Yding Andersen et al.   REPRODUCTION

ATR function is indispensable to allow proper mammalian follicle development

(2019) Sarai Pacheco et al.   CHROMOSOMA

Chromosome errors in human eggs shape natural fertility over reproductive life span

(2019) Jennifer R. Gruhn et al.   SCIENCE

Genetic predisposition to mosaic Y chromosome loss in blood

(2019) Deborah J. Thompson et al.   NATURE

Body mass index and age at natural menopause: an international pooled analysis of 11 prospective studies

(2018) Dongshan Zhu et al.   EUROPEAN JOURNAL OF EPIDEMIOLOGY

CHEK1 coordinates DNA damage signaling and meiotic progression in the male germline of mice

(2018) Hironori Abe et al.   HUMAN MOLECULAR GENETICS

Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types

(2018) Hilary K. Finucane et al.   NATURE GENETICS

Oocyte DNA damage quality control requires consecutive interplay of CHK2 and CK1 to activate p63

(2018) Marcel Tuppi et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Elucidating the genetic architecture of reproductive ageing in the Japanese population

(2018) Momoko Horikoshi et al.   Nature Communications

ATR is required to complete meiotic recombination in mice

(2018) Sarai Pacheco et al.   Nature Communications

Oocyte DNA damage quality control requires consecutive interplay of CHK2 and CK1 to activate p63

(2018) Marcel Tuppi et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Genomic and Molecular Landscape of DNA Damage Repair Deficiency across The Cancer Genome Atlas

(2018) Theo A. Knijnenburg et al.   Cell Reports

OUP accepted manuscript

(2018)   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Improving the visualization, interpretation and analysis of two-sample summary data Mendelian randomization via the Radial plot and Radial regression

(2018) Jack Bowden et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Transcriptome Landscape of Human Folliculogenesis Reveals Oocyte and Granulosa Cell Interactions

(2018) Yaoyao Zhang et al.   MOLECULAR CELL

Single-cell transcriptomics of 20 mouse organs creates a Tabula Muris

(2018) et al.   NATURE

The UK Biobank resource with deep phenotyping and genomic data

(2018) Clare Bycroft et al.   NATURE

Interpreting findings from Mendelian randomization using the MR-Egger method

(2017) Stephen Burgess et al.   EUROPEAN JOURNAL OF EPIDEMIOLOGY

Ages at menarche and menopause and reproductive lifespan as predictors of exceptional longevity in women

(2017) Aladdin H. Shadyab et al.   MENOPAUSE-THE JOURNAL OF THE NORTH AMERICAN MENOPAUSE SOCIETY

The DNA Damage Checkpoint Eliminates Mouse Oocytes with Chromosome Synapsis Failure

(2017) Vera D. Rinaldi et al.   MOLECULAR CELL

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

(2017) Felix R Day et al.   NATURE GENETICS

Fertility Preservation in Women

(2017) Jacques Donnez et al.   NEW ENGLAND JOURNAL OF MEDICINE

A single-cell resolution map of mouse hematopoietic stem and progenitor cell differentiation

(2016) S. Nestorowa et al.   BLOOD

Inhibitory phosphorylation of Cdk1 mediates prolonged prophase I arrest in female germ cells and is essential for female reproductive lifespan

(2016) Deepak Adhikari et al.   CELL RESEARCH

Variants in the FTO and CDKAL1 loci have recessive effects on risk of obesity and type 2 diabetes, respectively

(2016) Andrew R. Wood et al.   DIABETOLOGIA

Decreased ovarian reserve, dysregulation of mitochondrial biogenesis, and increased lipid peroxidation in female mouse offspring exposed to an obesogenic maternal diet

(2016) Catherine E. Aiken et al.   FASEB JOURNAL

Consistent Estimation in Mendelian Randomization with Some Invalid Instruments Using a Weighted Median Estimator

(2016) Jack Bowden et al.   GENETIC EPIDEMIOLOGY

Oocyte cryopreservation: where are we now?

(2016) Catrin E. Argyle et al.   HUMAN REPRODUCTION UPDATE

Sex and the development of Alzheimer's disease

(2016) Christian J. Pike   JOURNAL OF NEUROSCIENCE RESEARCH

Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets

(2016) Zhihong Zhu et al.   NATURE GENETICS

Transcript-level expression analysis of RNA-seq experiments with HISAT, StringTie and Ballgown

(2016) Mihaela Pertea et al.   Nature Protocols

Fast and Rigorous Computation of Gene and Pathway Scores from SNP-Based Summary Statistics

(2016) David Lamparter et al.   PLoS Computational Biology

Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

(2015) Bjarni J. Vilhjálmsson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Integrative analysis of 111 reference human epigenomes

(2015) Anshul Kundaje et al.   NATURE

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

(2015) Felix R Day et al.   NATURE GENETICS

Gene expression analysis identifies global gene dosage sensitivity in cancer

(2015) Rudolf S N Fehrmann et al.   NATURE GENETICS

Efficient Bayesian mixed-model analysis increases association power in large cohorts

(2015) Po-Ru Loh et al.   NATURE GENETICS

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

(2015) et al.   SCIENCE

MAGMA: Generalized Gene-Set Analysis of GWAS Data

(2015) Christiaan A. de Leeuw et al.   PLoS Computational Biology

Superovulation Using the Combined Administration of Inhibin Antiserum and Equine Chorionic Gonadotropin Increases the Number of Ovulated Oocytes in C57BL/6 Female Mice

(2015) Toru Takeo et al.   PLoS One

Trimmomatic: a flexible trimmer for Illumina sequence data

(2014) Anthony M. Bolger et al.   BIOINFORMATICS

Mutant Cohesin in Premature Ovarian Failure

(2014) Sandrine Caburet et al.   NEW ENGLAND JOURNAL OF MEDICINE

Reversal of Female Infertility by Chk2 Ablation Reveals the Oocyte DNA Damage Checkpoint Pathway

(2014) E. Bolcun-Filas et al.   SCIENCE

Mendelian Randomization Analysis With Multiple Genetic Variants Using Summarized Data

(2013) Stephen Burgess et al.   GENETIC EPIDEMIOLOGY

Population-based estimates of the prevalence of FMR1 expansion mutations in women with early menopause and primary ovarian insufficiency

(2013) Anna Murray et al.   GENETICS IN MEDICINE

Menopausal Hormone Therapy and Health Outcomes During the Intervention and Extended Poststopping Phases of the Women’s Health Initiative Randomized Trials

(2013) JoAnn E. Manson et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Impairment of BRCA1-Related DNA Double-Strand Break Repair Leads to Ovarian Aging in Mice and Humans

(2013) S. Titus et al.   Science Translational Medicine

Checkpoint kinase 1 is essential for meiotic cell cycle regulation in mouse oocytes

(2012) Lei Chen et al.   CELL CYCLE

An extra allele of Chk1 limits oncogene-induced replicative stress and promotes transformation

(2012) Andres J. López-Contreras et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways

(2012) Lisette Stolk et al.   NATURE GENETICS

Fiji: an open-source platform for biological-image analysis

(2012) Johannes Schindelin et al.   NATURE METHODS

DNA Damage in Oocytes Induces a Switch of the Quality Control Factor TAp63α from Dimer to Tetramer

(2011) Gregor B. Deutsch et al.   CELL

GCTA: A Tool for Genome-wide Complex Trait Analysis

(2010) Jian Yang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Common Inherited Variation in Mitochondrial Genes Is Not Enriched for Associations with Type 2 Diabetes or Related Glycemic Traits

(2010) Ayellet V. Segrè et al.   PLoS Genetics

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fancm-deficient mice reveal unique features of Fanconi anemia complementation group M

(2009) Sietske T. Bakker et al.   HUMAN MOLECULAR GENETICS

Ageing populations: the challenges ahead

(2009) Kaare Christensen et al.   LANCET

Testing ovarian reserve to predict age at menopause

(2009) C.B. Lambalk et al.   MATURITAS

Oocyte-Specific Deletion of Pten Causes Premature Activation of the Primordial Follicle Pool

(2008) P. Reddy et al.   SCIENCE

Diet-Induced Obesity in Female Mice Leads to Offspring Hyperphagia, Adiposity, Hypertension, and Insulin Resistance

(2007) Anne-Maj Samuelsson et al.   HYPERTENSION